Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs

Cross, Nancy E.; Steen, Cécile van; Zegaoui, Yasmina; Satherley, Andrew; Angelillo, Luigi

doi:10.2147/opth.s365486

Cited by 40 publications

(31 citation statements)

References 27 publications

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“…Cumplen los criterios de ER tanto por su prevalencia (1:3000-4000 personas) (4,5), como por sus características clínicas: crónicas, evolutivas y discapacitantes, pues conducen a baja visión y ceguera legal (2), con un gran impacto negativo en la calidad de vida y el ámbito emocional de personas afectadas y familiares (6).…”

Section: Autor Para La Correspondenciaunclassified

Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

et al. 2023

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Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with a prevalence of 1:3000-4000 people. They are genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, and lead to neurodegeneration and finally apoptosis. In 2021, we published our global results obtained in our registry at the Fundación Jiménez Díaz University Hospital (Madrid, Spain) from 1991 to August 2019. Now, we aimed to update these results until August 2022. Thus, we conducted a retrospective hospital-based cross-sectional study on 4.794 IRD-affected unrelated families from all the Spanish autonomous communities. Families were classified into three phenotypic categories: a) “NON-RP” for cone-dominated phenotypes, b) “RP” (retinitis pigmentosa) for primary rod involvement, and c) “syndromic IRD” when visual plus extra-ocular symptoms are present. Molecular studies included: single-gene studies, clinical exome, whole exome or whole genome sequencing. Overall, 62% (2962/4794) of the families were genetically characterized, in which 1.997 different likely causative variants (5.064 different alleles) were identified in 188 genes. The most common phenotype encountered was RP (59% of families, 2465/4794). Regarding the types of causative alleles, missenses were the most frequent (51%), followed by truncating (nonsense, frameshift, indels and splicing; 44%), while copy number variations were only 2%. The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP families, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and MYO7A, USH2A and BBS1 in syndromic IRD. Pathogenic variants ABCA4:p.Arg1129Leu and USH2A:p.Cys759Phe were the most frequent. Our study provides the overall genetic landscape for IRD in Spain, reporting the largest cohort ever presented and a high number of causal genes involved in these diseases. Furthermore, our findings have important implications for genetic diagnosis and counseling, but also for possible therapeutic management

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Section: Autor Para La Correspondenciaunclassified

Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

et al. 2023

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“…Although it is reported that RP is associated with a high level of caregiver burden arising from psychological and financial stress [ 9 ], this is the first study that reports in detail the subjective burden of caregivers of patients with RP in Japan. Our findings illustrate that caregivers may be disadvantaged both socioeconomically (in terms of their career and remuneration) and in terms of their daily life quality and wellbeing.…”

Section: Discussionmentioning

confidence: 99%

“…We must first understand the impacts on caregivers in order to identify areas for additional support. Although it is reported that RP is associated with a high level of caregiver burden arising from psychological and financial stress [ 9 ], there have been few detailed investigations of the burdens experienced by caregivers of patients with RP thus far.…”

Section: Introductionmentioning

confidence: 99%

Economic Impacts and Quality of Life for Caregivers of Patients with Retinitis Pigmentosa: A Cross-Sectional Japanese Study

et al. 2023

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Retinitis pigmentosa (RP) is the second leading cause of visual impairment in Japan and causes progressive vision loss in affected patients. Caregiving for patients with RP is associated with socioeconomic impacts; however, data on the magnitude and scope of these impacts are lacking. This cross-sectional study surveyed informal caregivers of patients with RP in Japan. The questionnaire assessed the socioeconomic status of participants; work impacts through the Work Productivity and Activity Impairment Questionnaire adapted for caregivers; and quality of life impacts through the Japanese version of the Caregiver Reaction Assessment (CRA) and the 5-level EQ-5D version (EQ-5D-5L). Of the 37 participating caregivers, 28 (75.7%) were employed. Among those, the average annual income was 2,722,080 yen (n = 20) and the mean loss of work productivity was 6.6%. The mean EQ-5D-5L index score was 0.882, and the mean CRA total score was 2.1. A mild to very severe impact on family life, leisure and hobbies, social life, and mental health was experienced by 83.8%, 78.4%, 75.7%, and 70.3%, respectively. These results suggest that caregivers of patients with RP may be disadvantaged in terms of employment and income and may experience wide-ranging impacts on their quality of daily life.

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“…Some studies showed that the onset of symptoms could be in childhood or in adulthood, with an average annual progression of 4–12% visual field loss [ 10 ]. In general, autosomal dominant RP has the least severe vision loss, whereas X-linked RP has the most severe manifestations and the worst prognosis [ 1 ]. Progression of visual field loss in RP typically begins with sectorial scotoma in the mid-peripheral areas, advancing to partial ring scotoma, complete ring scotoma, and ultimately resulting in total blindness.…”

Section: Overview Of Retinitis Pigmentosamentioning

confidence: 99%

“…It is the most common type of inherited retinal dystrophy and has a high burden on both patients and society. It is one of the leading causes of visual disability and blindness in people under 60 years old and affects over 1.5 million people worldwide [ 1 ]. Despite the heterogeneous phenotypes of the diseases, common symptoms of RP are nyctalopia and gradual loss of peripheral vision leading to blindness.…”

Section: Introductionmentioning

confidence: 99%

Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development

Kulbay

Toameh

et al. 2023

Pharmaceutics

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Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by progressive degeneration of retinal photoreceptors leading to progressive visual decline. It is the most common type of inherited retinal dystrophy and has a high burden on both patients and society. This condition causes gradual loss of vision, with its typical manifestations including nyctalopia, concentric visual field loss, and ultimately bilateral central vision loss. It is one of the leading causes of visual disability and blindness in people under 60 years old and affects over 1.5 million people worldwide. There is currently no curative treatment for people with RP, and only a small group of patients with confirmed RPE65 mutations are eligible to receive the only gene therapy on the market: voretigene neparvovec. The current therapeutic armamentarium is limited to retinoids, vitamin A supplements, protection from sunlight, visual aids, and medical and surgical interventions to treat ophthalmic comorbidities, which only aim to slow down the progression of the disease. Considering such a limited therapeutic landscape, there is an urgent need for developing new and individualized therapeutic modalities targeting retinal degeneration. Although the heterogeneity of gene mutations involved in RP makes its target treatment development difficult, recent fundamental studies showed promising progress in elucidation of the photoreceptor degeneration mechanism. The discovery of novel molecule therapeutics that can selectively target specific receptors or specific pathways will serve as a solid foundation for advanced drug development. This article is a review of recent progress in novel treatment of RP focusing on preclinical stage fundamental research on molecular targets, which will serve as a starting point for advanced drug development. We will review the alterations in the molecular pathways involved in the development of RP, mainly those regarding endoplasmic reticulum (ER) stress and apoptotic pathways, maintenance of the redox balance, and genomic stability. We will then discuss the therapeutic approaches under development, such as gene and cell therapy, as well as the recent literature identifying novel potential drug targets for RP.

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Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs

Cited by 40 publications

References 27 publications

Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

Economic Impacts and Quality of Life for Caregivers of Patients with Retinitis Pigmentosa: A Cross-Sectional Japanese Study

Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development

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